Canonical Allele Identifier: CA376719135

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472942A>T , CM000672.2:g.49472942A>T	GRCh38
NC_000010.10:g.50680988A>T , CM000672.1:g.50680988A>T	GRCh37
NC_000010.9:g.50350994A>T	NCBI36
NG_009442.1:g.71160T>A , LRG_465:g.71160T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2796T>A MANE Select	NP_000115.1:p.Tyr932Ter
ENST00000355832.10:c.2796T>A MANE Select	ENSP00000348089.5:p.Tyr932Ter
NM_000124.3:c.2796T>A	NP_000115.1:p.Tyr932Ter
NM_001346440.1:c.2796T>A	NP_001333369.1:p.Tyr932Ter
NM_001346440.2:c.2796T>A	NP_001333369.1:p.Tyr932Ter
ENST00000355832.9:c.2796T>A	ENSP00000348089.5:p.Tyr932Ter
ENST00000623073.3:c.*1092T>A	ENSP00000485650.1:n.*1092T>A
ENST00000623115.3:c.906T>A	ENSP00000485321.1:p.Tyr302Ter
ENST00000624341.3:c.628T>A
ENST00000681632.1:n.3761T>A
ENST00000681659.1:c.2637T>A	ENSP00000505631.1:p.Tyr879Ter